Variant #0000344315 (NC_000014.8:g.24550505del, NRL(NM_006177.3):c.654del)

Chromosome 14
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.24550505del
DNA change (hg38) g.24081296del
Published as NRL(NM_006177.3):c.654delC (p.(Cys219Valfs*4)), NRL(NM_006177.4):c.654delC (p.C219Vfs*4)
ISCN -
DB-ID NRL_000002 See all 10 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00012 View details
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PCK2 NM_001018073.1 +?/. - c.-13110del r.(?) p.(=)
DCAF11 NM_001163484.1 +?/. - c.-33681del r.(?) p.(=)
CPNE6 NM_006032.2 +?/. - c.*3446del r.(?) p.(=)
NRL NM_006177.3 +?/. - c.654del r.(?) p.(Cys219ValfsTer4)